Gene entry
JAK3
Janus kinase 3
- Chromosome
- 19
- Cytoband
- 19p13.11
- Variants (rsID)
- 9
JAK3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.11). Its official name is “Janus kinase 3”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs3212723Benignsingle nucleotide variantLymphoblastic leukemia, acute, with lymphomatous features|Acute megakaryoblastic leukemia|T-B+ severe combined immunodeficiency due to JAK3 deficiency
- rs3213409Benignsingle nucleotide variantLymphoblastic leukemia, acute, with lymphomatous features|Acute megakaryoblastic leukemia|T-B+ severe combined immunodeficiency due to JAK3 deficiency
- rs7254346Benignsingle nucleotide variantT-B+ severe combined immunodeficiency due to JAK3 deficiency
- rs193922362Conflicting interpretationssingle nucleotide variantSevere combined immunodeficiency disease|T-B+ severe combined immunodeficiency due to JAK3 deficiency
- rs35785705Conflicting interpretationssingle nucleotide variantT-B+ severe combined immunodeficiency due to JAK3 deficiency
- rs137852624Pathogenicsingle nucleotide variantT-B+ severe combined immunodeficiency due to JAK3 deficiency
- rs193922361Pathogenicsingle nucleotide variantSevere combined immunodeficiency disease|T-B+ severe combined immunodeficiency due to JAK3 deficiency
- rs193922364PathogenicDeletionSevere combined immunodeficiency disease|T-B+ severe combined immunodeficiency due to JAK3 deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.